ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) (rs45487992)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125686 SCV000169150 benign not specified 2014-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000233893 SCV000285393 benign Tuberous sclerosis 2 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125686 SCV000305218 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042551 SCV000395652 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562049 SCV000664685 likely benign Hereditary cancer-predisposing syndrome 2016-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125686 SCV000857581 likely benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042551 SCV000066345 not provided Tuberous sclerosis syndrome no assertion provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.